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- FIGURE 5-1. Schematic diagram illustrating a normal chromosome and
- three chromosome abnormalities observed in human neoplasms. (A)
- Diagram of the banding pattern of a normal chromosome 9. The
- chromosome arms (p, short arm; q, long arm), regions, and band numbers
- are indicated on the left of the chromosome; specific chromosome
- structures are indicated on the right of the chromosome. (B) Diagram
- of the mechanism of an interstitial deletion of the short arm of
- chromosome 9, a common abnormality in acute lymphoblastic leukemia.
- Chromosome breaks occur in bands 9p13 and 9p22, and the intervening
- chromosome segment (band 9p21 and parts of bands 9p13 and 9p22) is
- lost [del(9)(p13p22)]. (C) Diagram of the mechanism of a paracentric
- inversion. Chromosome breaks occur in two bands within a single
- chromosome arm, in this case 9q22 and 9q34; the intervening segment is
- inverted and the chromosome breaks are repaired [inv(9)(q22q34)]. (D)
- Diagram of the mechanism of the reciprocal translocation involving
- chromosomes 9 and 22, t(9;22)(q34;q11), which gives rise to the
- Philadelphia (Ph) chromosome in the malignant cells of patients with
- CML. Breaks occur in bands q34 and q11 of chromosomes 9 and 22,
- respectively, followed by a reciprocal exchange of chromosome
- material. This rearrangement results in the juxtaposition of the ABL
- oncogene, normally located at 9q34, to the BCR gene on chromosome 22,
- giving rise to a chimeric BCR-ABL gene, whose protein product plays a
- role in the transformation of hematopoietic cells. (Beutler E, ed.
- Hematology. New York: McGraw-Hill, 1990:79)
-